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Topic Review
SDHC Gene
succinate dehydrogenase complex subunit C
  • 851
  • 24 Dec 2020
Topic Review
TCF4 Gene
Transcription factor 4: The TCF4 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes.
  • 850
  • 24 Dec 2020
Topic Review
Brain-Lung-Thyroid Syndrome
Brain-lung-thyroid syndrome is a group of conditions that affect the brain, lungs, and thyroid gland (a butterfly-shaped gland in the lower neck). Brain-lung-thyroid syndrome historically included problems with all three organs, although the designation now encompasses a combination of brain, lung, and thyroid problems. About 50 percent of affected individuals have problems with all three organs, about 30 percent have brain and thyroid problems, and about 10 percent have brain and lung problems. The brain alone is affected in 10 to 20 percent of people with the condition. Such cases are sometimes called isolated benign hereditary chorea.
  • 850
  • 24 Dec 2020
Topic Review
Cushing Disease
Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms.
  • 850
  • 24 Dec 2020
Topic Review
Progressive Familial Intrahepatic Cholestasis
Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.
  • 850
  • 24 Dec 2020
Topic Review
Floating-Harbor Syndrome
Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.
  • 850
  • 25 Dec 2020
Topic Review
Hartsfield Syndrome
Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and a malformation of the hands and feet called ectrodactyly.
  • 849
  • 23 Dec 2020
Topic Review
HLRCC
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.
  • 849
  • 23 Dec 2020
Topic Review
Myoclonus-Dystonia
Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis).
  • 849
  • 23 Dec 2020
Topic Review
ZFP57 Gene
ZFP57 zinc finger protein
  • 849
  • 24 Dec 2020
Topic Review
CDKL5 Deficiency Disorder
CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.
  • 849
  • 24 Dec 2020
Topic Review
NcRNAs/Splicing Activity in TGCTs
Testicular germ cell tumors (TGCTs) are the most common tumors in adolescent and young men. Recently, genome-wide studies have made it possible to progress in understanding the molecular mechanisms underlying the development of tumors. It is becoming increasingly clear that aberrant regulation of RNA metabolism can drive tumorigenesis and influence chemotherapeutic response. Notably, the expression of non-coding RNAs as well as specific splice variants is deeply deregulated in human cancers. Since these cancer-related RNA species are considered promising diagnostic, prognostic and therapeutic targets, understanding their function in cancer development is becoming a major challenge.
  • 849
  • 05 Aug 2021
Topic Review
NF1 Gene
neurofibromin 1
  • 848
  • 23 Dec 2020
Topic Review
Treacher Collins Syndrome
Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face.
  • 848
  • 23 Dec 2020
Topic Review
Narcolepsy
Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.
  • 848
  • 23 Dec 2020
Topic Review
BRCA1 Gene
BRCA1, DNA repair associated
  • 848
  • 24 Dec 2020
Topic Review
TINF2 Gene
TERF1 interacting nuclear factor 2 (TINF2): The TINF2 gene provides instructions for making part of the shelterin protein complex.
  • 848
  • 25 Dec 2020
Topic Review
Multiple Endocrine Neoplasia
Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.
  • 847
  • 23 Dec 2020
Topic Review
GJB1 Gene
Gap junction protein beta 1
  • 847
  • 25 Dec 2020
Topic Review
Economically Relevant Traits Related Candidate Genes in Caprine
Despite their pivotal position as relevant sources for high-quality proteins in particularly hard environmental contexts, the domestic goat has not benefited from the advances made in genomics compared to other livestock species. Genetic analysis based on the study of candidate genes is considered an appropriate approach to elucidate the physiological mechanisms involved in the regulation of the expression of functional traits. This is especially relevant when such functional traits are linked to economic interest. The knowledge of candidate genes, their location on the goat genetic map and the specific phenotypic outcomes that may arise due to the regulation of their expression act as a catalyzer for the efficiency and accuracy of goat-breeding policies, which in turn translates into a greater competitiveness and sustainable profit for goats worldwide. 
  • 847
  • 19 Apr 2022
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